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Cerebral organic aciduria

MedGen UID:
1842677
Concept ID:
C5681292
Disease or Syndrome
Orphanet: ORPHA79158

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCerebral organic aciduria

Professional guidelines

PubMed

Bernstein L, Coughlin CR, Drumm M, Yannicelli S, Rohr F
Nutrients 2020 Oct 16;12(10) doi: 10.3390/nu12103162. PMID: 33081139Free PMC Article

Recent clinical studies

Etiology

Kılavuz S, Bulut D, Kor D, Şeker-Yılmaz B, Özcan N, Incecik F, Onan B, Ceylaner G, Önenli-Mungan N
Neuropediatrics 2021 Oct;52(5):358-369. Epub 2021 Feb 12 doi: 10.1055/s-0040-1722691. PMID: 33578440
Garbade SF, Greenberg CR, Demirkol M, Gökçay G, Ribes A, Campistol J, Burlina AB, Burgard P, Kölker S
J Inherit Metab Dis 2014 Sep;37(5):763-73. Epub 2014 May 9 doi: 10.1007/s10545-014-9676-9. PMID: 24810368

Diagnosis

Kılavuz S, Bulut D, Kor D, Şeker-Yılmaz B, Özcan N, Incecik F, Onan B, Ceylaner G, Önenli-Mungan N
Neuropediatrics 2021 Oct;52(5):358-369. Epub 2021 Feb 12 doi: 10.1055/s-0040-1722691. PMID: 33578440
Garbade SF, Greenberg CR, Demirkol M, Gökçay G, Ribes A, Campistol J, Burlina AB, Burgard P, Kölker S
J Inherit Metab Dis 2014 Sep;37(5):763-73. Epub 2014 May 9 doi: 10.1007/s10545-014-9676-9. PMID: 24810368
Ferdinandusse S, Waterham HR, Heales SJ, Brown GK, Hargreaves IP, Taanman JW, Gunny R, Abulhoul L, Wanders RJ, Clayton PT, Leonard JV, Rahman S
Orphanet J Rare Dis 2013 Dec 4;8:188. doi: 10.1186/1750-1172-8-188. PMID: 24299452Free PMC Article
Korman SH, Jakobs C, Darmin PS, Gutman A, van der Knaap MS, Ben-Neriah Z, Dweikat I, Wexler ID, Salomons GS
Eur J Paediatr Neurol 2007 Mar;11(2):81-9. Epub 2006 Dec 26 doi: 10.1016/j.ejpn.2006.11.006. PMID: 17188916

Therapy

Bernstein L, Coughlin CR, Drumm M, Yannicelli S, Rohr F
Nutrients 2020 Oct 16;12(10) doi: 10.3390/nu12103162. PMID: 33081139Free PMC Article
Li CW, Yu K, Xu Y, Sun XY, Li RR, Wang F
Nutrition 2015 Nov-Dec;31(11-12):1452-5. Epub 2015 Apr 20 doi: 10.1016/j.nut.2015.03.012. PMID: 26001807

Prognosis

Garbade SF, Greenberg CR, Demirkol M, Gökçay G, Ribes A, Campistol J, Burlina AB, Burgard P, Kölker S
J Inherit Metab Dis 2014 Sep;37(5):763-73. Epub 2014 May 9 doi: 10.1007/s10545-014-9676-9. PMID: 24810368

Clinical prediction guides

Garbade SF, Greenberg CR, Demirkol M, Gökçay G, Ribes A, Campistol J, Burlina AB, Burgard P, Kölker S
J Inherit Metab Dis 2014 Sep;37(5):763-73. Epub 2014 May 9 doi: 10.1007/s10545-014-9676-9. PMID: 24810368
Ferdinandusse S, Waterham HR, Heales SJ, Brown GK, Hargreaves IP, Taanman JW, Gunny R, Abulhoul L, Wanders RJ, Clayton PT, Leonard JV, Rahman S
Orphanet J Rare Dis 2013 Dec 4;8:188. doi: 10.1186/1750-1172-8-188. PMID: 24299452Free PMC Article

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